A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469610



Internal ID15187639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26873304..27031451hg38UCSC Ensembl
Innerchr6:26841083..26999230hg19UCSC Ensembl
Innerchr6:26949062..27107209hg18UCSC Ensembl
Innerchr6:26949062..27107209hg16UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38158148
hg19158148
hg18158148
hg16158148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10n29
Supporting Variantsnssv1675944, nssv1673448, nssv1672874, nssv1674364, nssv1674357, nssv1675801, nssv1675938, nssv1672160, nssv1675223, nssv1675246, nssv1674493, nssv1676475, nssv1675458, nssv1675073, nssv1674032, nssv1672719, nssv1672487, nssv1674770, nssv1675886, nssv1674199, nssv1676666
Samples
Known GenesGUSBP2, LINC00240, LOC100270746
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nsv469610
Frequency
Sample Size265
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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